Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340108del , CM000667.2:g.146340108del	GRCh38
NC_000005.9:g.145719671del , CM000667.1:g.145719671del	GRCh37
NC_000005.8:g.145699864del	NCBI36
NG_011885.1:g.6085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.681del MANE Select	ENSP00000495718.1:p.Ile228SerfsTer14
ENST00000230732.4:c.681del	ENSP00000230732.4:p.Ile228SerfsTer14
NM_002700.2:c.681del	NP_002691.1:p.Ile228SerfsTer14
NM_002700.3:c.681del MANE Select	NP_002691.1:p.Ile228SerfsTer14